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Record W4242010916 · doi:10.1002/047001153x.g102313

Mosaicism

2004· other· en· W4242010916 on OpenAlexaff
Wendy P. Robinson

Bibliographic record

VenueEncyclopedia of Genetics, Genomics, Proteomics and Bioinformatics · 2004
Typeother
Languageen
FieldMedicine
TopicPrenatal Screening and Diagnostics
Canadian institutionsUniversity of British Columbia
Fundersnot available
KeywordsMicrochimerismIn uteroAbnormalityFetusPhenotypeBiologyGeneticsImmunologyMedicinePregnancyGene

Abstract

fetched live from OpenAlex

Abstract Chromosome mosaicism is observed in all types of human tissues, and can be a difficult finding to interpret in the genetics clinic. Prenatally diagnosed mosaicism is particularly challenging as the range of possible outcomes extends from normal to fetal malformation and/or in utero death, while there is little the clinician can do to assess the effects on in utero fetal development. As very low levels of abnormal cells may be “normal,” the interpretation of a mosaic finding needs to be carefully considered in terms of the patient phenotype, the type and origin of the abnormality, and the extent of abnormal cells. Microchimerism, which can for example occur through exchange of cells between mother and fetus, can also lead to genetically distinct cell types within an individual, and is gaining a reputation for being involved in a wide range of autoimmune conditions. Much further work is needed to understand the long‐term effects of low‐level mosaicism and microchimerism in humans.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Other · Consensus signal: none
Teacher disagreement score0.809
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0010.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.008
GPT teacher head0.224
Teacher spread0.216 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

Study designNot applicable
Domainnot available
GenreOther

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations0
Published2004
Admission routes1
Has abstractyes

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